Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110602163G>T , CM000672.2:g.110602163G>T | GRCh38 |
| NC_000010.10:g.112361921G>T , CM000672.1:g.112361921G>T | GRCh37 |
| NC_000010.9:g.112351911G>T | NCBI36 |
| NG_012217.1:g.39473G>T , LRG_774:g.39473G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5323G>T | ||
| ENST00000685743.1:n.2798G>T | ||
| ENST00000686057.1:n.1441G>T | ||
| ENST00000689321.1:n.2053G>T | ||
| ENST00000689986.1:n.879G>T | ||
| ENST00000361804.5:c.3090G>T MANE Select | ENSP00000354720.5:p.Gln1030His | |
| ENST00000361804.4:c.3090G>T | ENSP00000354720.4:p.Gln1030His | |
| NM_005445.3:c.3090G>T , LRG_774t1:c.3090G>T | NP_005436.1:p.Gln1030His | |
| NM_005445.4:c.3090G>T MANE Select | NP_005436.1:p.Gln1030His |